| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Dysmetria, Cerebellar hypoplasia, Ataxia, Unsteady gait, Gait ataxia, Generalized... |
OMIM:213200 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Cerebellar hypoplasia, Ataxia, Generalized hypotonia, Hypotonia, Tremor |
OMIM:213000 |
| Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Cerebral atrophy, Cerebellar atrophy, Frequent falls, Gait ataxia, Spasticity, Gliosis, Torticollis |
OMIM:618369 |
| Spinocerebellar Ataxia 43 |
|
Cerebellar vermis atrophy, Ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Limb ataxia,... |
OMIM:617018 |
| Spastic Paraplegia 62, Autosomal Recessive |
|
Thoracic scoliosis, Spastic gait, Lower limb spasticity, Abnormal cerebellum morphology, Spastici... |
OMIM:615681 |
| Spinocerebellar Ataxia Type 31 |
|
Cerebellar atrophy, Impaired vibratory sensation, Gait ataxia, Spasticity, Tremor |
ORPHA:217012 |
| Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Frequent falls, Ataxia, Unsteady gait, Tremor |
OMIM:615945 |
| Episodic Ataxia, Type 1 |
|
Incoordination, Spastic gait, Babinski sign, Episodic ataxia, Slurred speech, Tremor |
OMIM:160120 |
| Spinocerebellar Ataxia 17 |
|
Cerebellar atrophy, Dysmetria, Parkinsonism, Dystonia, Intention tremor, Apraxia, Bradykinesia, A... |
OMIM:607136 |
| Huntington Disease |
|
Cerebellar atrophy, Bradykinesia, Gait ataxia, Rigidity, Chorea, Gliosis, Neuronal loss in centra... |
OMIM:143100 |
| Spinocerebellar Ataxia Type 38 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Gait ataxia, Difficulty walking, Tremor |
ORPHA:423296 |
| Autosomal Spastic Paraplegia Type 30 |
|
Progressive spastic paraplegia, Spastic gait, Somatic sensory dysfunction, Lower limb spasticity,... |
ORPHA:101010 |
| Optic Atrophy 2 |
|
Babinski sign, Tremor, Dysdiadochokinesis |
OMIM:311050 |
| Autosomal Recessive Spastic Paraplegia Type 62 |
|
Thoracic scoliosis, Spastic gait, Lower limb spasticity, Abnormal cerebellum morphology, Clonus, ... |
ORPHA:401785 |
| Spinocerebellar Ataxia Type 15/16 |
|
Cerebellar atrophy, Action tremor, Head tremor, Ataxia, Gait ataxia, Tremor by anatomical site, U... |
ORPHA:98769 |
| Autosomal Recessive Spastic Paraplegia Type 32 |
|
Progressive spastic paraplegia, Abnormal pons morphology, Cerebellar cortical atrophy, Impaired v... |
ORPHA:171622 |
| Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Cerebellar vermis atrophy, Cogwheel rigidity, Gait disturbance, Myoc... |
ORPHA:363710 |
| Cerebellar Ataxia And Albinism |
|
Head tremor, Olivopontocerebellar atrophy, Ataxia |
OMIM:258300 |
| Cerebellar Ataxia, Cayman Type |
|
Intention tremor, Cerebellar hypoplasia, Gait ataxia, Generalized hypotonia, Nonprogressive cereb... |
ORPHA:94122 |
| Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Cerebellar atrophy, Dysmetria, Intention tremor, Cerebellar vermis atrophy, Progressive cerebella... |
ORPHA:284332 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Ankle clonus, Cerebellar atrophy, Cerebellar hypoplasia, Unsteady gait, Spasticity, Limb ataxia, ... |
OMIM:615768 |
| Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Dysmetria, Tremor, Abnormal cerebellum morphology, Poor coordination, Scoliosis, Spasticity, Clum... |
OMIM:270500 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Unsteady gait, Generalized hypoto... |
OMIM:617917 |
| Spastic Paraplegia 32, Autosomal Recessive |
|
Cerebral atrophy, Cerebellar atrophy, Spastic gait, Lower limb spasticity, Spastic paraplegia, Ba... |
OMIM:611252 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Dystonia, Apraxia, Ataxia, Spasticity, Neurodegeneration, Tremor |
OMIM:615889 |
| Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Cerebellar atrophy, Broad-based gait, Cerebral palsy, Dysdiadochokinesis |
OMIM:605388 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Ataxia, Slurred speech, Tremor |
OMIM:613227 |
| Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Dysmetria, Cerebellar hypoplasia, Unsteady gait, Generalized hypotonia, Hypotonia, Truncal ataxia... |
OMIM:616127 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Hemiplegia, Gait disturbance, Abnormality ... |
OMIM:614561 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Frequent falls, Action tremor, Intention tremor, Cerebellar hypoplasia, Spastic dysarthria, Unste... |
ORPHA:314978 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4 |
|
Cerebral atrophy, Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Truncal ataxia |
OMIM:615268 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Cerebellar hypoplasia, Gliosis, Loss of Purkinje cells in the cerebellar vermis, Spasticity, Hypo... |
OMIM:225753 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Ankle clonus, Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Oromandibular dystoni... |
ORPHA:521406 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebellar atrophy, Ataxia, Abnormal cerebellum morphology, Diffuse cerebral atrophy, Abnormality... |
OMIM:615362 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Cerebellar atrophy, Dysmetria, Kyphosis, Ataxia, Gait ataxia, Scoliosis, Spasticity, Limb ataxia |
OMIM:610743 |
| Spastic Paraplegia 18, Autosomal Recessive |
|
Kyphosis, Upper limb spasticity, Lower limb spasticity, Spastic paraplegia, Scoliosis, Gait distu... |
OMIM:611225 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Cerebellar atrophy, Inability to walk, Ataxia, Hypotonia, Appendicular hypotonia |
OMIM:619333 |
| Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Slurred speech, Tremor |
ORPHA:401953 |
| Spinocerebellar Ataxia Type 35 |
|
Cerebellar atrophy, Dysmetria, Intention tremor, Gait ataxia, Progressive cerebellar ataxia, Tort... |
ORPHA:276193 |
| Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Ataxia, Myoclonus, Tremor |
OMIM:616187 |
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Somatic sensory dysfunction, Parkinsonism, Shuffling gait, Apraxia, Global brain atrophy, Bradyki... |
OMIM:221820 |
| Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Abnormal pyramidal sign, Cerebellar atrophy, Dysmetria, Intention tremor, Lower limb spasticity, ... |
OMIM:616948 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Neutropenia, Monocytosis, B lymphocytopenia |
OMIM:613107 |
| Spinocerebellar Ataxia Type 12 |
|
Cerebral atrophy, Cerebellar atrophy, Action tremor, Abnormal pyramidal sign, Parkinsonism, Inten... |
ORPHA:98762 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hand tremor, Fasciculations, Degeneration of anterior horn cells, Axonal degeneration, Distal sen... |
OMIM:604484 |
| Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Dysmetria, Impaired vibration sensation in the lower limbs, Gait ataxia, Neur... |
OMIM:610245 |
| Spinocerebellar Ataxia 45 |
|
Gait ataxia, Limb ataxia, Cerebellar atrophy, Ataxia |
OMIM:617769 |
| Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Gait ataxia, Generalized hypotonia, Spas... |
OMIM:608029 |
| Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Cerebellar vermis atrophy, Gait ataxia, Progressive cerebellar ataxi... |
ORPHA:98763 |
| Developmental And Epileptic Encephalopathy 14 |
|
Generalized hypotonia, Tetraplegia, Spasticity, Clonus, Cerebral cortical atrophy, Hypotonia, Gli... |
OMIM:614959 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Cerebellar atrophy, Frequent falls, Dysmetria, Fasciculations, Gait ataxia, Spasticity, Head titu... |
OMIM:611302 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Ataxia, Generalized hypotonia, ... |
OMIM:617862 |
| Migraine, Familial Hemiplegic, 1 |
|
Cerebellar atrophy, Ataxia, Hemiplegia, Hemiparesis, Tremor |
OMIM:141500 |
| Lopes-Maciel-Rodan Syndrome |
|
Cerebral atrophy, Abnormal pyramidal sign, Cerebellar atrophy, Hypertonia, Dystonia, Kyphosis, Ca... |
OMIM:617435 |
| Behr Syndrome |
|
Cerebellar atrophy, Dysmetria, Ataxia, Progressive spasticity, Gait disturbance, Babinski sign, T... |
OMIM:210000 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar atrophy, Dysmetria, Inability to walk, Generalized hypotonia, Rigidity, Gait disturban... |
OMIM:618090 |
| Spinocerebellar Ataxia Type 5 |
|
Incoordination, Cerebellar atrophy, Slurred speech, Gait disturbance |
ORPHA:98766 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... |
OMIM:202700 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Gait ataxia, Limb ataxia, Cerebellar atrophy, Spastic gait |
OMIM:617133 |
| Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Diffuse cerebral atrophy, Gait disturbance, Babinski sign, Tremor |
OMIM:300660 |
| Spinocerebellar Ataxia 41 |
|
Cerebellar atrophy, Ataxia, Unsteady gait |
OMIM:616410 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Cerebral atrophy, Cerebellar atrophy, Spastic gait, Kyphosis, Upper limb spasticity, Head tremor,... |
OMIM:614409 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 |
|
Cerebellar atrophy, Dysmetria, Thoracic kyphosis, Thoracic scoliosis, Cerebellar hypoplasia, Glob... |
OMIM:610185 |
| Spinocerebellar Ataxia 18 |
|
Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Babinski sign, Tremor |
OMIM:607458 |
| Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Dysmetria, Action tremor, Ataxia, Gait ataxia, Dysdiadochokinesis, Limb ataxia |
OMIM:616291 |
| Huntington Disease-Like 1 |
|
Incoordination, Simultanapraxia, Cerebellar atrophy, Dysmetria, Frequent falls, Involuntary movem... |
ORPHA:157941 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Cerebellar atrophy, Action tremor, Intention tremor, Ataxia, Neonatal hypotonia |
OMIM:302500 |
| Spinocerebellar Ataxia 35 |
|
Incoordination, Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Torticollis, Babinski si... |
OMIM:613908 |
| Spinocerebellar Ataxia Type 20 |
|
Kinetic tremor, Cerebellar atrophy, Abnormal pyramidal sign, Isometric tremor, Intention tremor, ... |
ORPHA:101110 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Tetraparesis, Cerebellar atrophy, Dystonia, Inability to walk, Ataxia, Generalized hypotonia, Fai... |
OMIM:618276 |
| Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar atrophy, Intention tremor, Ataxia, Rigidity, Myoclonus, Cerebellar vermis hypoplasia |
OMIM:618876 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Babinski sign, Spasticity, Ataxia, Tremor |
OMIM:611105 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Vocal cord paresis, Vocal cord paralysis, Difficulty walking, Tremor |
OMIM:158580 |
| Dystonia With Cerebellar Atrophy |
|
Cerebellar atrophy, Dystonia, Craniofacial dystonia, Progressive cerebellar ataxia, Torticollis |
OMIM:611694 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Cerebral atrophy, Dystonia, Kyphosis, Obesity, Lower limb spasticity, Inability to walk, Ataxia, ... |
OMIM:616756 |
| Autosomal Recessive Spastic Paraplegia Type 67 |
|
Progressive spastic paraplegia, Spastic gait, Lower limb spasticity, Aplasia/Hypoplasia of the ce... |
ORPHA:401820 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Abnormal pyramidal sign, Ataxia, Spasticity, Clumsiness, Abnormality of extrapyramidal motor func... |
ORPHA:79262 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Spastic gait, Dystonia, Impaired proprioception, Spastic dysarthria, Spastic parapleg... |
ORPHA:251282 |
| Spinocerebellar Ataxia 38 |
|
Gait ataxia, Limb ataxia, Cerebellar atrophy, Ataxia |
OMIM:615957 |
| Autosomal Recessive Spastic Ataxia With Leukoencephalopathy |
|
Dysmetria, Dystonia, Cerebellar hypoplasia, Spastic dysarthria, Progressive cerebellar ataxia, Ga... |
ORPHA:314603 |
| Spinocerebellar Ataxia Type 40 |
|
Dysmetria, Intention tremor, Pontocerebellar atrophy, Spastic paraparesis, Unsteady gait, Gait at... |
ORPHA:423275 |
| Spinocerebellar Ataxia 31 |
|
Gait ataxia, Limb ataxia, Cerebellar atrophy, Ataxia |
OMIM:117210 |
| Dystonia 23 |
|
Cerebellar atrophy, Axial dystonia, Head tremor, Limb dystonia, Cerebral cortical atrophy, Gait d... |
OMIM:614860 |
| X-Linked Progressive Cerebellar Ataxia |
|
Frequent falls, Dysmetria, Cerebellar vermis atrophy, Spastic dysarthria, Intention tremor, Unste... |
ORPHA:1175 |
| Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Resting tremor |
OMIM:619491 |
| Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy |
|
Cerebellar atrophy, Dysmetria, Paralysis, Limb fasciculations, Gait ataxia, Progressive cerebella... |
OMIM:606183 |
| Dystonia, Dopa-Responsive |
|
Incoordination, Dystonia, Resting tremor, Bradykinesia, Cogwheel rigidity, Gait ataxia, Impaired ... |
OMIM:128230 |
| Spinocerebellar Ataxia 40 |
|
Dysmetria, Intention tremor, Pontocerebellar atrophy, Spastic paraparesis, Unsteady gait, Dysdiad... |
OMIM:616053 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Cerebral atrophy, Parkinsonism, Dystonia, Bradykinesia, Substantia nigra gliosis, Rigidity, Gait ... |
OMIM:600116 |
| Spastic Paraplegia 50, Autosomal Recessive |
|
Cerebellar atrophy, Spastic tetraplegia, Spastic paraplegia, Cerebral palsy, Neonatal hypotonia, ... |
OMIM:612936 |
| Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Cerebellar atrophy, Dysmetria, Intention tremor, Fasciculations, Gait ataxia, Limb ataxia, Trunca... |
OMIM:613728 |
| Developmental And Epileptic Encephalopathy 37 |
|
Cerebral atrophy, Cerebellar atrophy, Choreoathetosis, Generalized hypotonia, Rigidity, Spasticit... |
OMIM:616981 |
| Machado-Joseph Disease |
|
Cerebellar atrophy, Parkinsonism, Dystonia, Dilated fourth ventricle, Impaired vibratory sensatio... |
OMIM:109150 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Dysmetria, Ataxia, Steppage gait, Gait ataxia, Distal sensory impairment, Tremor |
OMIM:618387 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... |
OMIM:614470 |
| Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Cerebellar atrophy, Generalized dystonia, Cerebellar vermis atrophy, Inability to walk, Lower lim... |
OMIM:619389 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Abnormal pyramidal sign, Cerebellar atrophy, Ataxia, Generalized hypotonia, Hypotonia, Myoclonus,... |
OMIM:612016 |
| Spinocerebellar Ataxia 12 |
|
Cerebellar atrophy, Dysmetria, Parkinsonism, Action tremor, Axial dystonia, Head tremor, Progress... |
OMIM:604326 |
| Spinocerebellar Ataxia 11 |
|
Progressive cerebellar ataxia, Cerebellar atrophy |
OMIM:604432 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Small for gestational age, Tremor, Abnormal cerebellum morphology, Truncal obesity, Hypotonia, Sp... |
OMIM:300957 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Cerebellar atrophy, Ataxia, Gait ataxia, Spasticity, Limb ataxia, Babinski sign |
OMIM:614322 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Abnormal pyramidal sign, Cerebellar atrophy, Parkinsonism, Resting tremor, Impaired vibratory sen... |
OMIM:617225 |
| Spinocerebellar Ataxia 19 |
|
Cerebellar atrophy, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Limb ataxia, T... |
OMIM:607346 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Cerebellar hypoplasia, Inability to walk, Lower limb spasticity, Ataxia, Failure to thrive, Dysto... |
ORPHA:280210 |
| Primary Orthostatic Tremor |
|
Abnormality of extrapyramidal motor function, Tremor |
ORPHA:238606 |
| Neuroectodermal Melanolysosomal Disease |
|
Hypertonia, Cerebral cortical hemiatrophy, Cerebellar hypoplasia, Ataxia, Abnormal cerebellar ver... |
ORPHA:33445 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Hemiballismus, Frequent falls, Unsteady gait, Axial hypotonia, Chorea, Tremor |
ORPHA:494526 |
| Glut1 Deficiency Syndrome 1 |
|
Paralysis, Choreoathetosis, Ataxia, Spasticity, Hemiparesis, Paroxysmal dystonia, Babinski sign, ... |
OMIM:606777 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Paralysis, Dystonia, Athetosis, Gliosis, Amyotrophic lateral sclerosis |
OMIM:300857 |
| Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Cerebellar atrophy, Spastic gait, Dystonia, Spastic paraplegia, Ataxia, Lower limb spasticity, Im... |
OMIM:607565 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Cerebral atrophy, Cerebellar atrophy, Action tremor, Parkinsonism, Apraxia, Bradykinesia, Impaire... |
OMIM:300423 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Impaired pain sensation, Ataxia, Scoliosis, Gait disturbance, Tremor |
ORPHA:101075 |
| Spinocerebellar Ataxia 30 |
|
Cerebellar atrophy, Ataxia |
OMIM:613371 |
| Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Limb dystonia, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function,... |
OMIM:605407 |
| Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Cerebral atrophy, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Gait ataxia, ... |
OMIM:616192 |
| Spastic Ataxia 3, Autosomal Recessive |
|
Cerebellar atrophy, Dysmetria, Dystonia, Gait ataxia, Scoliosis, Spasticity, Cerebral cortical at... |
OMIM:611390 |
| Microcephaly 10, Primary, Autosomal Recessive |
|
Cerebral atrophy, Cerebellar atrophy, Small for gestational age, Spasticity, Gliosis, Hypertonia |
OMIM:615095 |
| Spinocerebellar Ataxia 28 |
|
Cerebellar atrophy, Parkinsonism, Dystonia, Gait ataxia, Spasticity, Limb ataxia, Babinski sign, ... |
OMIM:610246 |
| Spinocerebellar Ataxia 20 |
|
Abnormal pyramidal sign, Action tremor, Palatal myoclonus, Gait ataxia, Limb ataxia, Postural tremor |
OMIM:608687 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Cerebral atrophy, Abnormal pyramidal sign, Astrocytosis, Ataxia, Upper motor neuron dysfunction, ... |
ORPHA:204 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Ataxia, Impaired tandem gait, Myoclonus, Tr... |
OMIM:619028 |
| Spinocerebellar Ataxia, X-Linked 3 |
|
Incoordination, Cerebellar atrophy, Dysmetria, Intention tremor, Unilateral vocal cord paralysis,... |
OMIM:301790 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Cerebellar atrophy, Frequent falls, Ataxia, Gait ataxia, Distal sensory impairment, Spasticity, T... |
OMIM:616719 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Tetraparesis, Spastic tetraparesis, Frequent falls, Dystonia, Basal ganglia gliosis, Choreoatheto... |
ORPHA:225154 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Cerebellar atrophy, Ataxia, Failure to thrive, Spasticity, Myoclonus, Tremor |
OMIM:616494 |
| Spastic Paraplegia 30, Autosomal Dominant |
|
Cerebellar atrophy, Dysmetria, Spastic gait, Spastic paraplegia, Ataxia, Lower limb spasticity, B... |
OMIM:610357 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Tetraparesis, Abnormal lower motor neuron morphology, Parkinsonism, Apraxia, Global brain atrophy... |
ORPHA:275872 |
| Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity |
|
Cerebral atrophy, Abnormal pyramidal sign, Impaired proprioception, Spastic dysarthria, Head trem... |
ORPHA:352641 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Frequent falls, Dystonia, Fasciculations, Ataxia, Gait ataxia, Spasticity, Babinski sign, Myoclon... |
OMIM:607317 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Hemiballismus, Frequent falls, Unsteady gait, Chorea, Hyperkinetic movements, Tremor |
OMIM:616921 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Cerebellar dysplasia, Motor stereotypy, Overweight, Hypotonia, Gait disturbance, Gliosis, Upper l... |
ORPHA:457240 |
| X-Linked Intellectual Disability, Hedera Type |
|
Cerebellar atrophy, Action tremor, Dysmetria, Frequent falls, Apraxia, Extrapyramidal muscular ri... |
ORPHA:93952 |
| Neurodegeneration With Brain Iron Accumulation |
|
Cerebellar atrophy, Dystonia, Rigidity, Spasticity, Chorea, Abnormality of extrapyramidal motor f... |
ORPHA:385 |
| Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Cerebellar atrophy, Spastic tetraparesis, Generalized hypotonia, Scoliosis, Progressive spastic p... |
ORPHA:496756 |
| Ceroid Lipofuscinosis, Neuronal, 8 |
|
Cerebral atrophy, Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Myo... |
OMIM:600143 |
| Leukodystrophy, Hypomyelinating, 18 |
|
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Dysmetria, Dystonia, Spastic te... |
OMIM:618404 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebral atrophy, Abnormal pyramidal sign, Cerebellar atrophy, Spastic tetraplegia, Ataxia, Unste... |
OMIM:256600 |
| Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Dysmetria, Parkinsonism, Dystonia, Ataxia, Gait ataxia, Chorea, Cachexia, Bab... |
OMIM:618093 |
| Spinocerebellar Ataxia Type 17 |
|
Atrophy/Degeneration affecting the brainstem, Abnormal pyramidal sign, Cerebellar atrophy, Parkin... |
ORPHA:98759 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Impaired pain sensation, Ataxia, Scoliosis, Gait disturbance, Tremor |
ORPHA:101078 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Paralysis, Extrapyramidal dyskinesia, Choreoathetosis, Dystonia, Apraxia, Ataxia, Spasticity, Hem... |
ORPHA:71277 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Generalized hyp... |
OMIM:617916 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Dysmetria, Abnormal pyramidal sign, Dilated fourth ventricle, Retrocerebellar... |
OMIM:614831 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Cerebellar atrophy, Dysmetria, Abnormal pyramidal sign, Dystonia, Ataxia, Gait disturbance, Gait ... |
OMIM:617145 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Cerebral atrophy, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Generalized h... |
OMIM:614946 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Incoordination, Cerebral atrophy, Cerebellar atrophy, Dysmetria, Dystonia, Neurodegeneration, Apr... |
OMIM:615157 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebral atrophy, Cerebellar atrophy, Decreased body weight, Abnormal pyramidal sign, Parkinsonis... |
OMIM:617672 |
| Juvenile Huntington Disease |
|
Cerebellar atrophy, Dystonia, Cerebellar vermis atrophy, Oral motor hypotonia, Bradykinesia, Atax... |
ORPHA:248111 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Tetraparesis, Cerebral atrophy, Abnormal lower motor neuron morphology, Parkinsonism, Extrapyrami... |
OMIM:105550 |
| Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Cerebellar atrophy, Dysmetria, Impaired vibratory sensation, Oculomotor apraxia, Progressive cere... |
ORPHA:284324 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Tetraparesis, Cerebral atrophy, Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Neuronal l... |
OMIM:615924 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Basal ganglia gliosis, Cerebellar hypoplasia, Fasciculations, Degeneration of anterior horn cells... |
OMIM:607596 |
| Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Cerebellar atrophy, Frequent falls, Intention tremor, Cerebellar vermis atrophy, Gait ataxia, Inf... |
ORPHA:512260 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Parkinsonism, Dystonia, Ataxia, Upper motor neuron dysfunction, Rigidity, Chorea, Myoclonus, Tremor |
ORPHA:401901 |
| Porphyria, Acute Hepatic |
|
Paralysis, Paresthesia, Generalized hypotonia, Failure to thrive, Respiratory paralysis, Hypotonia |
OMIM:612740 |
| Spinocerebellar Ataxia 42 |
|
Cerebellar atrophy, Abnormal pyramidal sign, Spastic gait, Ataxia, Unsteady gait, Loss of Purkinj... |
OMIM:616795 |
| Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Cerebellar atrophy, Spastic tetraplegia, Ataxia, Generalized hypotonia, Scoliosis, Spasticity |
OMIM:617207 |
| Autosomal Recessive Spastic Paraplegia Type 69 |
|
Progressive spastic paraplegia, Hand tremor, Spastic dysarthria, Lower limb spasticity, Aplasia/H... |
ORPHA:401830 |
| Roussy-Lévy Syndrome |
|
Frequent falls, Somatic sensory dysfunction, Impaired vibratory sensation, Impaired pain sensatio... |
ORPHA:3115 |
| Spinal Muscular Atrophy, Jokela Type |
|
Fasciculations, Difficulty walking, Distal sensory impairment, Tremor |
OMIM:615048 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Distal sensory impairment, Kyphosis, Difficulty walking, Scoliosis |
OMIM:617087 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Dysmetria, Dilated fourth ventricle, Cerebellar vermis atrophy, Ataxia, Gait ... |
ORPHA:1170 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Spastic gait, Lower limb spasticity, Spastic paraplegia, Impaired vibration sensation in the lowe... |
OMIM:600363 |
| Autosomal Spastic Paraplegia Type 58 |
|
Cerebral atrophy, Cerebellar atrophy, Frequent falls, Dysmetria, Abnormal pyramidal sign, Titubat... |
ORPHA:397946 |
| Spastic Paraplegia 26, Autosomal Recessive |
|
Frequent falls, Dysmetria, Spastic gait, Dystonia, Spastic paraplegia, Abnormal cerebellum morpho... |
OMIM:609195 |
| Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Gait ataxia, Babinski sign, Limb ataxia... |
OMIM:609270 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Kyphoscoliosis, Generalized hypotonia, Ataxia, Tremor |
OMIM:619099 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Myoclonic spasms, Dystonia, Ataxia, Unsteady gai... |
ORPHA:79263 |
| Atypical Juvenile Parkinsonism |
|
Abnormal pyramidal sign, Short stepped shuffling gait, Resting tremor, Shuffling gait, Dystonia, ... |
ORPHA:391411 |
| Spinocerebellar Ataxia 7 |
|
Dysmetria, Olivopontocerebellar atrophy, Progressive cerebellar ataxia, Spasticity, Chorea, Babin... |
OMIM:164500 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 |
|
Cerebellar atrophy, Dysmetria, Intention tremor, Cerebellar hypoplasia, Gait ataxia, Hypotonia, G... |
OMIM:224050 |
| Spinocerebellar Ataxia 46 |
|
Cerebellar atrophy, Dysmetria, Gait ataxia, Limb ataxia, Positive Romberg sign |
OMIM:617770 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Dystonia, Bradykinesia, Ataxia, Generalized hypotonia, Rigidity, Chiari type I malformation, Tremor |
OMIM:617836 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Frequent falls, Choreoathetosis, Small for gestational age, Dilated fourth ventricle, Cerebellar ... |
OMIM:619054 |
| Neuronopathy, Distal Hereditary Motor, Type Iib |
|
Paralysis, Difficulty walking |
OMIM:608634 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Cerebellar atrophy, Dystonia, Choreoathetosis, Ataxia, Rigidity, Spasticity, Tremor |
OMIM:612438 |
| Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Gait ataxia, Cerebellar atrophy, Ataxia, Unsteady gait |
OMIM:615705 |
| Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Frequent falls, Dysmetria, Dystonia, Intention tremor, Unsteady gait, Gait ataxia, Truncal ataxia... |
ORPHA:453521 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Dystonia, Ataxia, Chorea, Torticollis, Hyperkinetic movements, Tremor |
OMIM:618425 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Parkinsonism, Short stepped shuffling gait, Resting tremor, Shuffling gait, Bradykinesia, Rigidit... |
ORPHA:306692 |
| Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Cerebellar atrophy, Dysmetria, Intention tremor, Gait ataxia, Spasticity, Dysdiadochokinesis |
OMIM:615386 |
| Spastic Paraplegia 20, Autosomal Recessive |
|
Cerebellar atrophy, Dysmetria, Spastic gait, Upper limb spasticity, Spastic paraparesis, Spastic ... |
OMIM:275900 |
| Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Abnormal pons morphology, Cerebellar atrophy, Dysmetria, Abnormal pyramidal sign, Impaired vibrat... |
ORPHA:98 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Cerebellar atrophy, Dysmetria, Cerebellar hypoplasia, Apraxia, Inability to walk, Gait ataxia, Sp... |
OMIM:617810 |
| Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis, Impaired proprioception, Impaired vibratory sensation, Limb dystonia, Failure to thrive... |
ORPHA:319199 |
| Spinocerebellar Ataxia 5 |
|
Incoordination, Cerebellar atrophy, Dysmetria, Impaired vibratory sensation, Intention tremor, Ga... |
OMIM:600224 |
| Jaberi-Elahi Syndrome |
|
Cerebellar atrophy, Dysmetria, Dystonia, Choreoathetosis, Kyphosis, Inability to walk, Gait ataxi... |
OMIM:617988 |
| Spastic Paraplegia 53, Autosomal Recessive |
|
Dystonia, Kyphosis, Impaired vibratory sensation, Spastic paraplegia, Lower limb hypertonia, Clon... |
OMIM:614898 |
| Spinocerebellar Ataxia 29 |
|
Dysmetria, Cerebellar vermis atrophy, Intention tremor, Gait ataxia, Impaired tandem gait, Hypoto... |
OMIM:117360 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Cerebellar atrophy, Parkinsonism, Resting tremor, Bradykinesia, Craniofacial dystonia, Limb dysto... |
ORPHA:71517 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Neonatal hypotonia, Action tremor, Ataxia |
OMIM:300703 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Cerebral atrophy, Caudate atrophy, Apraxia, Spasticity, Gait disturbance, Gliosis, Babinski sign,... |
OMIM:221770 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism, Dystonia, Bradykinesia, Lower limb spasticity, Rigidity, Scissor gait, Abnormality ... |
OMIM:260300 |
| Autosomal Recessive Ataxia, Beauce Type |
|
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Dysmetria, Kyphosis, Impaired v... |
ORPHA:88644 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Abnormal pyramidal sign, Cerebellar atrophy, Dystonia, Progressive cerebellar ataxia, Hypotonia, ... |
ORPHA:139485 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Focal dystonia, Oromandibular dystonia, Li... |
ORPHA:216873 |
| Atypical Rett Syndrome |
|
Dystonia, Kyphosis, Pill-rolling tremor, Apraxia, Loss of ability to walk, Involuntary movements,... |
ORPHA:3095 |
| Spastic Paraplegia 10, Autosomal Dominant |
|
Spastic gait, Parkinsonism, Lower limb spasticity, Spastic paraplegia, Ataxia, Impaired vibration... |
OMIM:604187 |
| Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Cerebral atrophy, Distal sensory impairment, Gliosis, Neuronal loss in central nervous system, Ab... |
OMIM:604218 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, ... |
OMIM:300894 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Failure to thrive, Short neck, Ataxia, Tremor |
OMIM:618951 |
| Parkinson Disease 19A, Juvenile-Onset |
|
Abnormal pyramidal sign, Parkinsonism, Dystonia, Shuffling gait, Bradykinesia, Rigidity, Spastici... |
OMIM:615528 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Spasticity, Ataxia, Tremor |
OMIM:614307 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Abnormal cerebellum morphology, Ataxia, Spasticity, Corpus callosum atrophy, Gliosis, Babinski si... |
OMIM:169500 |
| Spinocerebellar Ataxia Type 27 |
|
Cerebellar atrophy, Hand tremor, Akinesia, Gait ataxia, Limb ataxia, Gait disturbance, Truncal at... |
ORPHA:98764 |
| Developmental And Epileptic Encephalopathy 32 |
|
Ataxia, Myoclonus, Tremor |
OMIM:616366 |
| Leigh Syndrome |
|
Dystonia, Ataxia, Hepatocellular necrosis, Generalized hypotonia, Failure to thrive, Spasticity, ... |
OMIM:256000 |
| Lethal Congenital Contracture Syndrome 7 |
|
Cerebral atrophy, Cerebellar atrophy, Paralysis, Generalized hypotonia, Hypotonia |
OMIM:616286 |
| Glutathionuria |
|
Tremor |
OMIM:231950 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Cerebral atrophy, Cerebellar atrophy, Hypertonia, Abnormal cerebellum morphology, Impaired vibrat... |
ORPHA:137898 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Cerebral atrophy, Abnormal pyramidal sign, Cerebellar atrophy, Upper limb spasticity, Spastic dys... |
ORPHA:320391 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Leukopenia, Refractory anemia, Monocytosis |
OMIM:616871 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Kyphosis, Impaired pain sensation, Ataxia, Paraparesis, Scoliosis, Gait disturbance, Tremor |
ORPHA:99014 |
| L-2-Hydroxyglutaric Aciduria |
|
Abnormal pyramidal sign, Cerebellar atrophy, Spastic tetraparesis, Global brain atrophy, Corpus c... |
OMIM:236792 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Incoordination, Abnormal pyramidal sign, Obesity, Ataxia, Unsteady gait, Generalized hypotonia, H... |
OMIM:614947 |
| Spinocerebellar Ataxia Type 2 |
|
Kinetic tremor, Parkinsonism, Dystonia, Fasciculations, Progressive cerebellar ataxia, Gait ataxi... |
ORPHA:98756 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Spasticity, Ataxia, Small for gestational age, Tremor |
OMIM:278780 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Cerebellar atrophy, Dysmetria, Hypertonia, Intention tremor, Ataxia, Steppage gait, Cerebellar gl... |
OMIM:616505 |
| Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Dystonia, Choreoathetosis, Ataxia, Generalized h... |
OMIM:618088 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Myoclonic spasms, Rigidity, Clonus, Gliosis, Neuronal loss in central nervous system, Babinski si... |
OMIM:614498 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Scoliosis, Difficulty walking, Myoclonus, Tremor |
OMIM:614018 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Abnormal pyramidal sign, Parkinsonism, Dystonia, Bradykinesia, Athetosis, Gait disturbance, Rigid... |
OMIM:213600 |
| Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Cerebellar atrophy, Dysmetria, Dystonia, Ataxia, Generalized hypotonia, Failure to thrive, Spasti... |
OMIM:617954 |
| Myoclonic-Atonic Epilepsy |
|
Eyelid myoclonus, Scoliosis, Ataxia, Tremor |
OMIM:616421 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Abnormal pyramidal sign, Cerebellar atrophy, Spastic tetraparesis, Hypertonia, Fasciculations, Lo... |
OMIM:618598 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor, Gait disturbance |
OMIM:611808 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Scoliosis, Paralysis, Difficulty walking |
OMIM:605285 |
| Spinocerebellar Ataxia 14 |
|
Cerebellar atrophy, Dysmetria, Focal dystonia, Gait ataxia, Progressive cerebellar ataxia, Impair... |
OMIM:605361 |
| Pontocerebellar Hypoplasia, Type 2A |
|
Extrapyramidal dyskinesia, Opisthotonus, Cerebellar hypoplasia, Gliosis, Cerebral cortical atroph... |
OMIM:277470 |
| Spectrin-Associated Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy, Dysmetria, Intention tremor, Progressive cerebellar ataxia, Spasticity, Progr... |
ORPHA:352403 |
| Hypermanganesemia With Dystonia 2 |
|
Opisthotonus, Dystonia, Scoliosis, Scissor gait, Hypotonia, Tremor, Ankle clonus, Cerebellar atro... |
OMIM:617013 |
| Paralysis Agitans, Juvenile, Of Hunt |
|
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Gait disturbance, Tremor |
OMIM:168100 |
| Huntington Disease-Like 1 |
|
Incoordination, Dysmetria, Basal ganglia gliosis, Global brain atrophy, Unsteady gait, Rigidity, ... |
OMIM:603218 |
| Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Parkinsonism, Cerebellar calcifications, Generalized dystonia, Bradykinesia, Limb dystonia, Rigid... |
OMIM:618824 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Dystonia, Bradykinesia, Postural tremor, Rigidity, Diffuse cerebral atrophy, Gait disturbance, Ba... |
ORPHA:314632 |
| Spinocerebellar Ataxia Type 29 |
|
Cerebellar atrophy, Dysmetria, Intention tremor, Cerebellar vermis atrophy, Ataxia, Gait ataxia, ... |
ORPHA:208513 |
| Pelizaeus-Merzbacher Disease |
|
Abnormal pyramidal sign, Dystonia, Choreoathetosis, Generalized dystonia, Cerebellar vermis atrop... |
OMIM:312080 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Generalized hypotonia, Tremor, Hypertonia |
OMIM:264070 |
| Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Cerebellar atrophy, Dysmetria, Oculomotor apraxia, Ataxia, Unsteady gait, Distal sensory impairme... |
OMIM:617633 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Dysmetria, Spastic tetraparesis... |
OMIM:612319 |
| Spinocerebellar Ataxia Type 28 |
|
Kinetic tremor, Parkinsonism, Dystonia, Head tremor, Limb dystonia, Gait ataxia, Rigidity, Spasti... |
ORPHA:101109 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Abnormal astrocyte morphology, Cerebellar hypoplasia, Spasticity, Gliosis |
ORPHA:168486 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Ataxia, Unsteady gait, Titubation, Tremor |
OMIM:619405 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Leukocytosis, Monocytosis, Thrombocytosis, Neutrophilia, B lymphocytopenia |
OMIM:619281 |
| Primary Dystonia, Dyt13 Type |
|
Torsion dystonia, Action tremor, Dystonia, Focal dystonia, Motor stereotypy, Generalized dystonia... |
ORPHA:98807 |
| Spastic Paraplegia 85, Autosomal Recessive |
|
Cerebellar atrophy, Impaired proprioception, Impaired vibratory sensation, Impaired tactile sensa... |
OMIM:619686 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Cerebral atrophy, Kyphosis, Cerebellar hypoplasia, Obesity, Inability to walk, Ataxia, Unsteady g... |
OMIM:618443 |
| Developmental And Epileptic Encephalopathy 97 |
|
Stereotypical hand wringing, Inability to walk, Hypotonia, Tremor |
OMIM:619561 |
| Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Incoordination, Cerebellar atrophy, Dysmetria, Cerebellar vermis atrophy, Ataxia, Gait ataxia, Tr... |
OMIM:616204 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar hypoplasia, Generalized hypotonia, Failure to thrive, Hypotonia, Gliosis, Kyphoscoliosis |
OMIM:214150 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Parkinsonism, Dystonia, Choreoathetosis, Small for gestational age, Bradykinesia, Tremor, Ataxia,... |
OMIM:261640 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Incoordination, Cerebellar atrophy, Dysmetria, Frequent falls, Hand tremor, Axonal degeneration, ... |
OMIM:302800 |
| Spinocerebellar Ataxia 34 |
|
Abnormal pyramidal sign, Cerebellar atrophy, Intention tremor, Fasciculations, Ataxia, Gait ataxi... |
OMIM:133190 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Frequent falls, Somatic sensory dysfunction, Hand tremor, Impaired vibratory sensation, Impaired ... |
ORPHA:99947 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Abnormal pyramidal sign, Dysmetria, Parkinsonism, Dystonia, Bradykinesia, Abnormal cerebellum mor... |
OMIM:618317 |
| Dystonia 3, Torsion, X-Linked |
|
Torsion dystonia, Chorea, Parkinsonism with favorable response to dopaminergic medication, Myoclo... |
OMIM:314250 |
| Spinocerebellar Ataxia Type 21 |
|
Cerebellar vermis atrophy, Akinesia, Gait ataxia, Progressive cerebellar ataxia, Rigidity, Abnorm... |
ORPHA:98773 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Somatic sensory dysfunction, Spastic paraparesis, Inability to walk, Scoliosis, Gait disturbance,... |
ORPHA:101077 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cerebellar atrophy, Dystonia, Choreoathetosis, Oculomotor apraxia, Ataxia, Axonal degeneration, G... |
OMIM:208920 |
| Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Cerebral atrophy, Abnormal pyramidal sign, Cerebellar atrophy, Dystonia, Ataxia, Generalized hypo... |
ORPHA:527497 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Dysmetria, Babinski sign, Tremor |
OMIM:612437 |
| Peroxisome Biogenesis Disorder 5B |
|
Cerebellar atrophy, Dysmetria, Ataxia, Unsteady gait, Generalized hypotonia, Neonatal hypotonia, ... |
OMIM:614867 |
| Spinocerebellar Ataxia 15 |
|
Cerebellar atrophy, Action tremor, Gait ataxia, Limb ataxia, Truncal ataxia, Postural tremor |
OMIM:606658 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Cerebellar atrophy, Paralysis, Astrocytosis, Ataxia, Generalized hypotonia, Failure to thrive, Hy... |
OMIM:203700 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Dystonia, Cerebral cortical hemiatrophy, Bradykinesia, Generalized hypotonia, Scoli... |
ORPHA:306669 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Dystonia, Oculogyric crisis, Inability to walk, Scoliosis, Diffuse cerebral a... |
ORPHA:330050 |
| Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Cerebellar hypoplasia, Truncal ataxia, Dysmetria, Ataxia |
OMIM:617584 |
| Primary Dystonia, Dyt27 Type |
|
Action tremor, Focal dystonia, Axial dystonia, Limb dystonia, Laryngeal dystonia, Upper limb post... |
ORPHA:464440 |
| Ataxia-Oculomotor Apraxia 4 |
|
Cerebellar atrophy, Dystonia, Ataxia, Tetraplegia, Oculomotor apraxia |
OMIM:616267 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Cerebral atrophy, Dystonia, Basal ganglia gliosis, Small for gestational age, Cerebellar cyst, In... |
ORPHA:79243 |
| Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia |
ORPHA:284271 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Cerebellar atrophy, Kyphosis, Ataxia, Scoliosis, Gait disturbance |
ORPHA:85317 |
| Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Dysmetria, Ataxia, Increased neuronal autofluorescent lipopigment, Dysdiadoch... |
OMIM:256731 |
| Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy |
|
Abnormal pyramidal sign, Cerebellar atrophy, Limb dystonia, Hypotonia, Truncal ataxia, Spasticity... |
OMIM:617560 |
| Spastic Paraplegia 7, Autosomal Recessive |
|
Cerebellar atrophy, Dysmetria, Spastic gait, Spastic paraplegia, Impaired vibration sensation in ... |
OMIM:607259 |
| Spastic Paraparesis And Deafness |
|
Spastic paraparesis, Tremor |
OMIM:312910 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Progressive spastic paraplegia, Cerebral atrophy, Dystonia, Kyphosis, Obesity, Lower limb spastic... |
ORPHA:464282 |
| Progressive Supranuclear Palsy |
|
Dystonia, Blepharospasm, Bradykinesia, Unsteady gait, Rigidity, Cerebral cortical atrophy, Gliosi... |
ORPHA:683 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Cerebellar atrophy, Action tremor, Hypertonia, Parkinsonism, Dystonia, Global brain atrophy, Atax... |
OMIM:619738 |
| Corticobasal Syndrome |
|
Somatic sensory dysfunction, Parkinsonism, Dystonia, Involuntary movements, Bradykinesia, Limb ap... |
ORPHA:454887 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Tremor, Steppage gait, Distal sensory impairment, Scoliosis, Spasticity, Babinski sign, Hypertonia |
OMIM:609260 |
| Cln5 Disease |
|
Cerebellar atrophy, Dysmetria, Atrophy/Degeneration affecting the central nervous system, Inabili... |
ORPHA:228360 |
| Spinocerebellar Ataxia Type 26 |
|
Cerebellar atrophy, Progressive cerebellar ataxia, Limb ataxia, Progressive gait ataxia, Truncal ... |
ORPHA:101112 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Involuntary movements, Dystonia, Myoclonus, Tremor |
OMIM:611092 |
| Hereditary Neuropathy With Liability To Pressure Palsies |
|
Paresthesia, Scoliosis, Vocal cord paralysis |
ORPHA:640 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Leukopenia, Monocytosis, Cryptorchidism, Atrial septal defect, Cor triatriatum, Splenomegaly, Hep... |
OMIM:612541 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Kyphoscoliosis, Distal sensory impairment, Tremor |
OMIM:616668 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Cerebral atrophy, Abnormal pyramidal sign, Dystonia, Kyphosis, Impaired pain sensation, Inability... |
ORPHA:500180 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Generalized hypotonia, Failure to thrive... |
OMIM:618356 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Cerebellar atrophy, Kyphosis, Ataxia, Unsteady gait, Scoliosis |
OMIM:300861 |
| Adult Idiopathic Neutropenia |
|
Neutropenia, Monocytosis, Lymphopenia, Monocytopenia |
ORPHA:2688 |
| Leukoencephalopathy With Vanishing White Matter |
|
Unsteady gait, Hypotonia, Generalized hypotonia, Spasticity, Gait disturbance, Gliosis |
OMIM:603896 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Frequent falls, Fasciculations, Degeneration of anterior horn cells, Scoliosis, Tongue fasciculat... |
OMIM:159950 |
| Spinocerebellar Ataxia 44 |
|
Cerebellar atrophy, Frequent falls, Dysmetria, Ataxia, Gait ataxia, Spasticity, Dysdiadochokinesis |
OMIM:617691 |
| Spinocerebellar Ataxia 8 |
|
Incoordination, Abnormal pyramidal sign, Cerebellar atrophy, Progressive cerebellar ataxia, Spast... |
OMIM:608768 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Facial hypotonia, Spastic gait, Parkinsonism, Resting tremor, Shuffling gait, Choreoathetosis, Ap... |
OMIM:300055 |
| Parkinson Disease 14, Autosomal Recessive |
|
Parkinsonism, Dystonia, Apraxia, Global brain atrophy, Bradykinesia, Rigidity, Spasticity, Clumsi... |
OMIM:612953 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cerebral atrophy, Cerebellar atrophy, Ataxia, Generalized hypotonia, Failure to thrive, Spasticit... |
OMIM:618426 |
| Spinocerebellar Ataxia 2 |
|
Dysmetria, Action tremor, Parkinsonism, Dilated fourth ventricle, Impaired vibratory sensation, F... |
OMIM:183090 |
| Tay-Sachs Disease |
|
Incoordination, Ankle clonus, Cerebellar atrophy, Dysmetria, Frequent falls, Decerebrate rigidity... |
ORPHA:845 |
| Ataxia-Oculomotor Apraxia 3 |
|
Cerebellar atrophy, Frequent falls, Dysmetria, Ataxia, Distal sensory impairment, Oculomotor apraxia |
OMIM:615217 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ataxia, Generalized hypotonia, Failure to thrive, Hypotonia, Gliosis, Tremor |
OMIM:220111 |
| Parkinsonism With Spasticity, X-Linked |
|
Parkinsonism, Resting tremor, Bradykinesia, Cogwheel rigidity, Spasticity, Babinski sign |
OMIM:300911 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Eyelid myoclonus, Abnormal lower motor neuron morphology, Frequent falls, Inability to walk, Scol... |
ORPHA:2590 |
| You-Hoover-Fong Syndrome |
|
Kyphoscoliosis, Spasticity, Ataxia, Generalized hypotonia |
OMIM:616954 |
| Spinocerebellar Ataxia 27 |
|
Cerebellar atrophy, Impaired vibratory sensation, Head tremor, Ataxia, Gait ataxia, Truncal ataxi... |
OMIM:609307 |
| Ataxia-Telangiectasia-Like Disorder |
|
Cerebellar atrophy, Frequent falls, Dysmetria, Dystonia, Dilated fourth ventricle, Intention trem... |
ORPHA:251347 |
| Spastic Paraplegia 79, Autosomal Recessive |
|
Tetraparesis, Cerebral atrophy, Cerebellar atrophy, Dysmetria, Neurodegeneration, Intention tremo... |
OMIM:615491 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dystonia, Choreoathetosis, Tremor, Hypotonia, Myoclonus, Hypertonia |
OMIM:261630 |
| Hemimegalencephaly |
|
Gliosis, Abnormal neuron morphology, Hemiparesis, Myoclonus |
ORPHA:99802 |
| Masa Syndrome |
|
Kyphosis, Shuffling gait, Lower limb spasticity, Spastic paraplegia, Hyperlordosis, Paraplegia |
OMIM:303350 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor |
OMIM:614369 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Fasciculations, Inability to walk, Impaired distal vibration sensation, Tongue fasciculations, Ga... |
ORPHA:276435 |
| Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Cryptorchidism, Monocytosis, Micropenis |
OMIM:610680 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, ... |
ORPHA:329284 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Cerebellar atrophy, Dysmetria, Cerebellar hypoplasia, Gait ataxia, Generalized hypotonia, Spastic... |
ORPHA:529665 |
| Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Parkinsonism, Apraxia, Bradykinesia, Gait ataxia, Truncal ataxia, Rigidity, S... |
OMIM:137440 |
| Perrault Syndrome 1 |
|
Cerebellar atrophy, Intention tremor, Ataxia, Gait ataxia, Scoliosis, Spastic diplegia |
OMIM:233400 |
| Dystonia 11, Myoclonic |
|
Generalized hypotonia, Hypotonia, Torticollis, Writer's cramp, Myoclonus, Tremor |
OMIM:159900 |
| Mannosidosis, Alpha B, Lysosomal |
|
Abnormal pyramidal sign, Cerebellar atrophy, Increased vertebral height, Gait ataxia, Spondylolis... |
OMIM:248500 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Vestibular areflexia, Spastic tetraplegia, Cerebellar hypoplasia, Axial hypotonia, Diffuse cerebr... |
ORPHA:3240 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Cerebellar atrophy, Action tremor, Intention tremor, Gait ataxia, Postural tremor, Myoclonus |
OMIM:254900 |
| Glut1 Deficiency Syndrome 2 |
|
Cerebral atrophy, Dystonia, Choreoathetosis, Ataxia, Tremor |
OMIM:612126 |
| Dystonia 27 |
|
Action tremor, Laryngeal dystonia, Postural tremor, Writer's cramp, Oromandibular dystonia |
OMIM:616411 |
| Sandhoff Disease |
|
Failure to thrive, Kyphosis, Ataxia |
ORPHA:796 |
| Spinocerebellar Ataxia Type 19/22 |
|
Cerebellar atrophy, Poor coordination, Ataxia, Cogwheel rigidity, Limb ataxia, Slurred speech, Tr... |
ORPHA:98772 |
| Boucher-Neuhauser Syndrome |
|
Cerebellar atrophy, Intention tremor, Ataxia, Spinocerebellar atrophy, Gait ataxia, Spasticity, A... |
OMIM:215470 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Cataplexy, Inability to walk, A... |
OMIM:617193 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Cerebral cortical atrophy, Spasticity, Ataxia, Tremor |
OMIM:300983 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Thoracic kyphosis, Impaired tactile sensation, Tremor, Ataxia, Gait ataxia, Generalized hypotonia... |
OMIM:619092 |
| Parkinson Disease 1, Autosomal Dominant |
|
Parkinsonism, Dystonia, Resting tremor, Shuffling gait, Bradykinesia, Rigidity, Gait disturbance,... |
OMIM:168601 |
| Hsd10 Disease |
|
Choreoathetosis, Spastic paraparesis, Ataxia, Rigidity, Infantile muscular hypotonia, Gait distur... |
ORPHA:391417 |
| Gm2-Gangliosidosis, Ab Variant |
|
Cerebral atrophy, Abnormal pyramidal sign, Spastic tetraparesis, Paralysis, Dystonia, Neurodegene... |
OMIM:272750 |
| Baralle-Macken Syndrome |
|
Dystonia, Kyphosis, Global brain atrophy, Obesity, Inability to walk, Neonatal hypotonia, Spasticity |
OMIM:619255 |
| Machado-Joseph Disease Type 1 |
|
Cerebellar atrophy, Abnormal pyramidal sign, Dystonia, Degeneration of the striatum, Dilated four... |
ORPHA:276238 |
| Machado-Joseph Disease Type 2 |
|
Cerebellar atrophy, Abnormal pyramidal sign, Dystonia, Degeneration of the striatum, Dilated four... |
ORPHA:276241 |
| Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Cerebellar hypoplasia, Inability to walk, Tremor, Ataxia, Failure to thrive, Hypotonia, Hypertonia |
OMIM:619556 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Cerebral atrophy, Cerebellar atrophy, Ataxia, Steppage gait, Distal sensory impairment |
OMIM:607250 |
| Marinesco-Sjogren Syndrome |
|
Kyphosis, Cerebellar cortical atrophy, Ataxia, Gait ataxia, Generalized hypotonia, Failure to thr... |
OMIM:248800 |
| Aicardi-Goutieres Syndrome 6 |
|
Loss of ability to walk, Rigidity, Dystonia, Tremor |
OMIM:615010 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Abnormal pyramidal sign, Frequent falls, Somatic sensory dysfunction, Focal dystonia, Apraxia, In... |
ORPHA:240103 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Abnormal pyramidal sign, Dysmetria, Kyphosis, Abnormality of the cervical spine, Intention tremor... |
ORPHA:48431 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Failure to thrive, Dystonia, Myoclonus, Tremor |
OMIM:619651 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Cerebellar atrophy, Dysmetria, Dystonia, Spastic paraparesis, Ataxia, Spasticity, Dysdiadochokine... |
OMIM:614487 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Gliosis, Hemiparesis |
OMIM:613002 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Eyelid myoclonus, Incoordination, Abnormal pyramidal sign, Cerebellar hypoplasia, Pontocerebellar... |
OMIM:618060 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Abnormal pyramidal sign, Freezing of gait, Parkinsonism, Focal dystonia, Extrapyramidal muscular ... |
ORPHA:99750 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Gliosis, Generalized hypotonia, Hypotonia |
OMIM:615119 |
| Spinocerebellar Ataxia 4 |
|
Cerebellar atrophy, Progressive cerebellar ataxia, Distal sensory impairment, Limb dysmetria, Bab... |
OMIM:600223 |
| Spinocerebellar Ataxia Type 42 |
|
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Spastic gait, Resting tremor, C... |
ORPHA:458803 |
| Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
| Spinocerebellar Ataxia 26 |
|
Incoordination, Cerebellar atrophy, Gait ataxia, Limb ataxia, Truncal ataxia |
OMIM:609306 |
| Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome |
|
Cerebral atrophy, Cerebellar atrophy, Decreased body weight, Atrophy of the spinal cord, Atrophy/... |
ORPHA:445062 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Opisthotonus, Dystonia, Scoliosis, Clonus, Axial dystonia, Tip-toe gait, Head titubation, Amyotro... |
ORPHA:300605 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Action tremor, Gait ataxia, Distal sensory impairment, Kyphoscoliosis, Upper limb postural tremor |
OMIM:180800 |
| Neuronopathy, Distal Hereditary Motor, Type Iia |
|
Paralysis |
OMIM:158590 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Parkinsonism, Paralysis, Amyotrophic lateral sclerosis |
OMIM:105500 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Abnormal pyramidal sign, Hypertonia, Parkinsonism, Dystonia, Oculogyric crisis, Oromandibular dys... |
OMIM:613135 |
| Mental Retardation, X-Linked 82 |
|
Scoliosis, Kyphosis |
OMIM:300518 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Hypotonia, Generalized hypotonia, Spasticity, Neurodegeneration, Gliosis, Neu... |
OMIM:616239 |
| Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Cerebellar atrophy, Dysmetria, Dystonia, Cerebellar hypoplasia, Spastic dysarthria, Spastic parap... |
ORPHA:313772 |
| Spastic Paraplegia 39, Autosomal Recessive |
|
Progressive spastic paraplegia, Cerebellar atrophy, Atrophy of the spinal cord, Ataxia, Gait dist... |
OMIM:612020 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Hemiballismus, Hypertonia, Parkinsonism, Dystonia, Choreoathetosis, Cerebral atrophy, Bradykinesi... |
OMIM:618877 |
| Optic Atrophy 3, Autosomal Dominant |
|
Abnormality of extrapyramidal motor function, Tremor |
OMIM:165300 |
| Xeroderma Pigmentosum, Complementation Group F |
|
Decreased body weight, Ataxia, Scoliosis, Brain atrophy, Tremor |
OMIM:278760 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Parkinsonism, Dystonia, Choreoathetosis, Blepharospasm, Bradykinesia, Ataxia, Laryngeal dystonia,... |
OMIM:606159 |
| Pelizaeus-Merzbacher Disease |
|
Dystonia, Choreoathetosis, Failure to thrive in infancy, Kyphosis, Ataxia, Hypotonia, Scoliosis, ... |
ORPHA:702 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Paralysis, Difficulty walking |
OMIM:613710 |
| Machado-Joseph Disease Type 3 |
|
Cerebellar atrophy, Abnormal pyramidal sign, Abnormal lower motor neuron morphology, Dystonia, Di... |
ORPHA:276244 |
| Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Ataxia, Hypertonia |
ORPHA:1368 |
| Ataxia With Vitamin E Deficiency |
|
Abnormal pyramidal sign, Dysmetria, Hypertonia, Dystonia, Ataxia, Gait disturbance, Scoliosis, Dy... |
ORPHA:96 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Torsion dystonia, Hypertonia, Kyphosis, Blepharospasm, Hyperlordosis, Generalized hypotonia, Scol... |
OMIM:128100 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Cerebral atrophy, Ataxia, Tremor |
OMIM:618637 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
| Spinocerebellar Ataxia Type 1 |
|
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Dysmetria, Dystonia, Impaired p... |
ORPHA:98755 |
| Hereditary Late-Onset Parkinson Disease |
|
Frequent falls, Parkinsonism, Resting tremor, Shuffling gait, Dystonia, Bradykinesia, Akinesia, R... |
ORPHA:411602 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Cerebral atrophy, Dystonia, Choreoathetosis, Cerebellar hypoplasia, Ataxia, Lumbar kyphoscoliosis... |
OMIM:619422 |
| Spinocerebellar Ataxia Type 8 |
|
Cerebellar atrophy, Dystonia, Impaired vibratory sensation, Cerebellar vermis atrophy, Spastic dy... |
ORPHA:98760 |
| Parkinson Disease 22, Autosomal Dominant |
|
Bradykinesia, Tremor, Resting tremor, Gait disturbance |
OMIM:616710 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Frequent falls, Dystonia, Myoclonus, Tremor |
OMIM:619647 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Cerebellar atrophy, Frequent falls, Kyphosis, Cerebellar cyst, Hyperlordosis, Scoliosis, Neonatal... |
OMIM:606612 |
| Spastic Ataxia, Charlevoix-Saguenay Type |
|
Dysmetria, Spastic gait, Cerebellar vermis atrophy, Falls, Impaired vibration sensation in the lo... |
OMIM:270550 |
| Monomelic Amyotrophy |
|
Fasciculations, Degeneration of anterior horn cells, Tremor |
ORPHA:65684 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
